Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03056:Fkbp14'

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409237

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkbp14

Ensembl Gene

ENSMUSG00000038074

Gene Name

FK506 binding protein 14

Synonyms

FKBP22

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL03056

Quality Score

Status

Chromosome

Chromosomal Location

54577604-54597308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54579544 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000046070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046520] [ENSMUST00000117375] [ENSMUST00000155047]

Predicted Effect

probably benign
Transcript: ENSMUST00000046520
AA Change: V207A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046070
Gene: ENSMUSG00000038074
AA Change: V207A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:FKBP_C	38	132	2e-28	PFAM
Pfam:EF-hand_7	116	207	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117375
AA Change: V113A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112526
Gene: ENSMUSG00000038074
AA Change: V113A

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	1	38	1.1e-13	PFAM
EFh	45	73	4.08e1	SMART
EFh	89	117	2.56e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141757

Predicted Effect

probably benign
Transcript: ENSMUST00000155047

SMART Domains

Protein: ENSMUSP00000114521
Gene: ENSMUSG00000038074

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	38	117	7.3e-25	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,670,903	H1118R	probably damaging	Het
Aff1	G	A	5: 103,811,081	V339I	probably damaging	Het
Ank1	G	T	8: 23,141,179	V107F	probably damaging	Het
Aox3	T	C	1: 58,159,021		probably null	Het
Cd160	T	C	3: 96,805,811	T46A	probably benign	Het
Col20a1	A	T	2: 180,994,889	Y221F	probably damaging	Het
Ddx18	C	T	1: 121,564,535	A148T	probably benign	Het
Dennd5b	A	G	6: 149,055,072	M307T	probably damaging	Het
Fam166a	T	A	2: 25,221,355	M232K	possibly damaging	Het
Fam216b	G	A	14: 78,082,783	H86Y	probably benign	Het
Fh1	A	T	1: 175,606,162	C374S	probably damaging	Het
Gucy1a1	T	C	3: 82,113,287	K101R	probably benign	Het
Kcnk2	G	T	1: 189,295,711	Q116K	possibly damaging	Het
Kdm5b	C	A	1: 134,587,979	Q114K	probably damaging	Het
Kif12	C	T	4: 63,166,956	R516Q	probably null	Het
Lca5l	C	T	16: 96,161,351	C463Y	probably benign	Het
Lgsn	T	A	1: 31,203,624	Y262*	probably null	Het
Lig4	A	G	8: 9,972,580	I400T	possibly damaging	Het
Mink1	T	A	11: 70,612,583		probably null	Het
Mprip	T	A	11: 59,771,692	I2243N	probably damaging	Het
Myo1f	A	T	17: 33,585,600	Y426F	probably damaging	Het
Naip2	T	A	13: 100,162,287	S414C	possibly damaging	Het
Nrg1	T	C	8: 31,821,423	I363V	possibly damaging	Het
Olfr1278	A	T	2: 111,293,172	R301S	possibly damaging	Het
Olfr582	A	T	7: 103,041,751	I86L	possibly damaging	Het
Serpinb9d	T	C	13: 33,202,753	V268A	probably damaging	Het
Slc15a1	A	G	14: 121,491,283	F17L	possibly damaging	Het
Slc9a3	T	A	13: 74,150,819	V119E	probably damaging	Het
Sspo	T	A	6: 48,470,538	M2346K	probably benign	Het
Tcf4	G	T	18: 69,651,212		probably benign	Het
Trabd2b	T	C	4: 114,409,338	V183A	probably damaging	Het
Ust	T	C	10: 8,207,562	H350R	probably benign	Het
Zfp952	T	A	17: 33,002,766	V35E	probably damaging	Het

Other mutations in Fkbp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02953:Fkbp14	APN	6	54579682	missense	probably damaging	1.00
R4178:Fkbp14	UTSW	6	54589314	missense	probably damaging	1.00
R4863:Fkbp14	UTSW	6	54585945	splice site	probably benign
R4975:Fkbp14	UTSW	6	54592958	missense	probably benign	0.01
R5710:Fkbp14	UTSW	6	54589270	splice site	probably null
R5714:Fkbp14	UTSW	6	54585850	missense	probably damaging	1.00
R6671:Fkbp14	UTSW	6	54579677	missense	probably damaging	1.00
R6792:Fkbp14	UTSW	6	54585852	nonsense	probably null
R7606:Fkbp14	UTSW	6	54593018	missense	probably benign	0.01
R7748:Fkbp14	UTSW	6	54595520	unclassified	probably benign

Posted On

2016-08-02